Short Description

NGS genetic DNA test detecets for variant and mutation detection in MYBPC1 gene for Arthrogryposis, distal, type 1B

PreTest Information

Clinical History of Patient who is going for MYBPC1 Gene Arthrogryposis, distal, type 1B NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MYBPC1 Gene Arthrogryposis, distal, type 1B NGS Genetic DNA Test gene MYBPC1

Detail Description

MYBPC1 Gene Arthrogryposis, Distal, Type 1B NGS Genetic DNA Test

Arthrogryposis is a rare congenital disorder characterized by joint contractures and muscle weakness. It affects approximately 1 in 3,000 live births. The disorder can be caused by genetic mutations that affect muscle development and function. One such mutation is in the MYBPC1 gene, which is responsible for encoding a protein that is essential for proper muscle function.

Symptoms of MYBPC1 Gene Arthrogryposis, Distal, Type 1B

Arthrogryposis can affect different parts of the body and can present in a variety of ways. In MYBPC1 Gene Arthrogryposis, Distal, Type 1B, the symptoms are primarily limited to the distal joints, which are those that are farthest from the center of the body. The disorder is characterized by contractures in the fingers, wrists, ankles, and toes. This can result in a claw-like appearance of the hands and feet.

Other symptoms may include:

• Difficulty with fine motor skills
• Weakness in the affected muscles
• Difficulty walking or standing
• Abnormal curvature of the spine (scoliosis)
• Difficulty with breathing due to weakness in the muscles that control the chest wall

Diagnosis

Diagnosis of MYBPC1 Gene Arthrogryposis, Distal, Type 1B can be challenging as it is a rare disorder and the symptoms can be similar to other types of arthrogryposis. A physical exam and medical history can help to identify joint contractures and muscle weakness. Genetic testing can confirm a diagnosis and identify the specific gene mutation that is causing the disorder.

NGS Genetic DNA Test

NGS (Next-Generation Sequencing) is a powerful tool for genetic testing that can analyze multiple genes at once. The MYBPC1 gene is included in many NGS panels for arthrogryposis. The test involves collecting a sample of DNA, typically through a blood draw or saliva sample, and analyzing the DNA for mutations in the MYBPC1 gene.

Cost of NGS Genetic DNA Test for MYBPC1 Gene Arthrogryposis, Distal, Type 1B

The cost of the NGS Genetic DNA Test for MYBPC1 Gene Arthrogryposis, Distal, Type 1B in India is approximately INR 20,000. However, the cost may vary depending on the specific testing facility and any additional services that may be required. It is important to consult with a healthcare provider and a genetic counselor to determine the appropriate testing and treatment options for individuals with arthrogryposis.

Conclusion

MYBPC1 Gene Arthrogryposis, Distal, Type 1B is a rare genetic disorder that can cause joint contractures and muscle weakness. NGS Genetic DNA testing is a powerful tool for identifying the specific gene mutation that is causing the disorder. The cost of the test in India is approximately INR 20,000. It is important to consult with healthcare providers and genetic counselors to determine the appropriate testing and treatment options for individuals with arthrogryposis.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for MYBPC1 Gene Arthrogryposis, distal, type 1B NGS Genetic DNA Test